Variant
MYBPC3 D770N
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
- p.Asp770Asn
- p.D770N
- rs36211723
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 21 January 2026
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
D770N is a missense variant in MYBPC3: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Hypertrophic Cardiomyopathy (criteria provided, multiple submitters, no conflicts). ClinVar also lists it under 2 more conditions.
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Hypertrophic CardiomyopathyClinVar VCV000036604 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 3 submissions | 21 January 2026 |
| hypertrophic cardiomyopathy 4ClinVar VCV000036604 (opens in a new tab) | Pathogenic/likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 6 submissions | 17 October 2022 |
| left ventricular noncompaction 10ClinVar VCV000036604 (opens in a new tab) | Pathogenic/likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 4 submissions | 1 January 2019 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in MYBPC3
D770N lies in exon 23 of the 35 in MYBPC3's MANE Select transcript, NM_000256.3.
Molecular details
| Gene | MYBPC3 |
|---|---|
| Transcript | NM_000256.3MANE Select |
| Coding DNA change (HGVS c.) | c.2308G>A |
| Protein change (HGVS p.) | p.Asp770Asnp.D770N |
| Predicted consequence | Missensemissense_variant (opens in a new tab)exonic_splice_region_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr11:47338520 C>T |
| Position (GRCh37) | chr11:47360071 C>T |
| dbSNP ID | rs36211723 (opens in a new tab) |
| ClinVar Variation ID | VCV000036604 (opens in a new tab) |
| ClinVar Allele ID | 45266 |
| ClinGen Allele Registry ID | CA012015 (opens in a new tab) |
| ClinVar name | NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) |
MYBPC3 D770N in other databases
Reports that look at this variant (3)
These Genome Test condition reports include D770N among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Dilated Cardiomyopathy | Dilated Cardiomyopathy | |
| Hypertrophic Cardiomyopathy | Hypertrophic Cardiomyopathy | Autosomal dominant |
| Left Ventricular Noncompaction | Left Ventricular Noncompaction |
Other variants in MYBPC3
- R495GLikely pathogenic3 stars out of 4
- R495QLikely pathogenic3 stars out of 4
- R495WLikely pathogenic3 stars out of 4
- R502QPathogenic3 stars out of 4
- A105Pfs*54Pathogenic2 stars out of 4
- A364TPathogenic2 stars out of 4
- A482Gfs*49Pathogenic2 stars out of 4
- c.25+1G>APathogenic2 stars out of 4
- c.406+1G>ALikely pathogenic2 stars out of 4
- c.407-2A>GLikely pathogenic2 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.
Cite this page
Dante Labs. (16 October 2026). MYBPC3 D770N (c.2308G>A, rs36211723) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/mybpc3/variants/d770n
Dante Labs. MYBPC3 D770N (c.2308G>A, rs36211723) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mybpc3/variants/d770n
Read your whole genome
From $449Free shipping · Results in 6–8 weeks